Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome: understanding research and clinical practice

Introduction:

Sjögren-Larsson syndrome (SLS) is a rare hereditary disease that was first described by Swedish neurologist and psychiatrist Carl Gunnar Sjögren and Torsten Larsson. This syndrome is characterized by a combination of skin changes and intellectual disability, as well as the presence of other medical signs. In this article, we will review the main aspects of Sjögren-Larsson syndrome, including its clinical presentation, genetic features, diagnosis, and possible treatment approaches.

Clinical presentation:

Sjögren-Larsson syndrome appears immediately after birth or in early childhood. The main signs of the syndrome are xeroderma (dry skin), ictyosis (the stratum corneum of the skin looks like fish scales), as well as intellectual disability of varying severity. In addition, patients with SLS may experience epilepsy attacks, delayed speech development, impaired motor coordination and vision problems.

Genetic features:

Sjögren-Larsson syndrome is inherited in an autosomal recessive manner and is caused by a mutation in the fetinin aldehyde dehydrogenase gene (ALDH3A2). This gene is responsible for producing an enzyme needed to process fatty acids in the skin. Mutations in ALDH3A2 lead to the accumulation of fatty acids, which causes defects in the skin and other body tissues.

Diagnostics:

The diagnosis of Sjögren-Larsson syndrome is made based on clinical manifestations, physical examination results, and genetic studies. Confirmation of the presence of a mutation in the ALDH3A2 gene makes it possible to accurately diagnose this syndrome.

Treatment and support:

At the moment, there is no specific treatment aimed at correcting the underlying genetic defect of Sjögren-Larsson syndrome. However, patients with this syndrome may require symptomatic treatment to improve skin conditions, control seizures, and support intellectual development.

An important role is played by medical genetic counseling, which provides patients and their families with information about the heredity of the syndrome, the possibility of relapse, and the risks of transmitting a genetic mutation to future generations. In addition, patients with SLS may require multispecialty treatment that includes dermatological, neurological, and psychological support.

Importance of Research:

Although Sjogren-Larsson syndrome is a rare disease, research in this area is important for understanding the mechanisms underlying this syndrome, as well as for developing new approaches to diagnosis and treatment. Genetic studies are identifying new mutations and genes associated with SLS, leading to improved diagnosis and patient counseling.

Conclusion:

Sjögren-Larsson syndrome is a rare inherited disorder characterized by a combination of skin changes and intellectual disability. Genetic studies are important for the diagnosis and counseling of patients with SLS, as well as for the development of new treatment approaches. A better understanding of this syndrome may help improve the quality of life of patients and their families.

Sjögren Larsson syndrome is a simultaneous lesion of the salivary glands and cerebral cortex, manifested by degradation of thinking, emotional lability, asthenia and the predominance of excitability over inhibition. The disease is diagnosed in most cases before the age of 20 years. Over the course of a decade, 75% of patients' neurological status worsens. Symptoms of this pathology include: depression and suicidal behavior; drowsiness; speech disorder; disturbances of attention, coordination and balance; memory impairment; decreased libido and desire; delusions and hallucinations; autism, dementia. The pathology is much less common than post-stroke mental disorders and has been little studied by psychiatrists.